ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter) (rs398123373)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078767 SCV000228424 pathogenic not provided 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000078767 SCV000617517 pathogenic not provided 2017-07-03 criteria provided, single submitter clinical testing The R1326X nonsense variant in the LAMA2 gene has been reported previously in multiple patients with congenital muscular dystrophy who harbored a second LAMA2 variant on the opposite allele (Geranmayeh et al., 2010, Løkken et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R1326X to be a pathogenic variant
Fulgent Genetics,Fulgent Genetics RCV000763553 SCV000894370 pathogenic Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000801722 SCV000941514 pathogenic Laminin alpha 2-related dystrophy 2018-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1326*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398123373, ExAC 0.009%). This variant has been observed to be homozygous or in combination with another LAMA2 variant in several individuals affected with LAMA2-related muscular dystrophy (PMID: 18700894, 30055037). ClinVar contains an entry for this variant (Variation ID: 92956). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000176719 SCV000793939 pathogenic Merosin deficient congenital muscular dystrophy 2017-09-08 no assertion criteria provided clinical testing

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